about
From Genetics to Epigenetics: New Perspectives in Tourette Syndrome ResearchMutation update on the CHD7 gene involved in CHARGE syndromeIdentification of a major recombination hotspot in patients with short stature and SHOX deficiency.Mutations in the CHD7 gene: the experience of a commercial laboratoryRecurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.Majority of divergence between closely related DNA samples is due to indels.Disease susceptibility genes for autism.Exploiting CpG hypermutability to identify phenotypically significant variation within human protein-coding genesHomeodomain revisited: a lesson from disease-causing mutations.Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenesMutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.N6-methyl-adenine: an epigenetic signal for DNA-protein interactionsHuman diallelic insertion/deletion polymorphisms.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
P2860
Q26741433-E662D2BF-515D-4179-8839-1849B15A8F47Q28263190-4CFD726A-4F6B-406F-ACE7-E8F54169A470Q34021087-33B21B37-4142-4621-8CD5-063A767CEEDCQ34405763-3F6C812A-7E72-4013-B800-C6C346D92E99Q34491417-109E65D4-7DFA-43E1-B6DF-064892119F99Q34959280-8F236EED-C413-4753-9253-8E6D69D10C35Q35170630-ACF16884-AF7C-49E6-833C-9BABED16174DQ35253312-A1EBB200-DD44-444A-96EF-5C7141039144Q36052235-6BFEE037-2685-413C-BD45-E5DC3866D212Q36079385-89142EF3-DB5A-45A2-83D0-C81CE2D9EB46Q36116293-E2DDBA33-2D11-4C56-8A56-8D04B94566A2Q36401376-B6C2FAA6-A0B0-4774-A0A8-AEFF427AC021Q37203127-0881DEDE-0D76-425E-BF9C-7726C325C93BQ38629504-53CBCEFA-C802-44D9-B53B-0E105E79B3E3
P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Disease-causing mutations in the human genome.
@ast
Disease-causing mutations in the human genome.
@en
Disease-causing mutations in the human genome.
@nl
type
label
Disease-causing mutations in the human genome.
@ast
Disease-causing mutations in the human genome.
@en
Disease-causing mutations in the human genome.
@nl
prefLabel
Disease-causing mutations in the human genome.
@ast
Disease-causing mutations in the human genome.
@en
Disease-causing mutations in the human genome.
@nl
P356
P1476
Disease-causing mutations in the human genome.
@en
P2093
M Krawczak
S E Antonarakis
P2888
P304
P356
10.1007/PL00014395
P478
159 Suppl 3
P577
2000-12-01T00:00:00Z
P5875
P6179
1051389681